This week at Weissler Conference we talked about how acute porphyria used to be diagnosed many years ago – exposing urine to ultraviolet radiation (the sun!) and the color becoming purple-pink. This was even mentioned in the TV show, Scrubs, when JD accidentally diagnoses a patient with acute porphyria by this method in the episode “My Dumb Luck” (thanks to Punag for the reference). The diagnosis is now established in a patient who presents with neurovisceral symptoms (abdominal pain, nausea, vomiting, constipation, neuropathies) with a substantial elevation in urinary porphobilinogen. Measurements of fecal, serum, urine porphyrins and and erythrocyte porphobilinogen deaminase (PBGD) will help distinguish the type of acute porphyria. Check out the review article below from Blood to learn more about porphyrias!
(image courtesy of http://scrubs.wikia.com/wiki/My_Dumb_Luck)